Varaico: Literature-Extracted Genetic Variants

Gene:CAVIN1

CAVIN1

99 papers

RefSeq Summary

This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by p...

Pfam Domains

PTRF_SDPRaa 48–320UCSCPTRF/SDPR family

Gene Aliases

HGNC Name

caveolae associated protein 1

HGNC Previous Symbol

PTRF

Papers
RefSeq ID
Protein change
DNA change
1–12 of 111 variants
9 papers
NM_012232.6
p.Q87*
c.259C>T
7 papers
NM_012232.6
p.F232_K233insFs
c.696_697insC
6 papers
NM_012232.6
p.K161insFs
c.482_483ins4
5 papers
NM_012232.6
p.K161fs
c.481_482fs
5 papers
NM_012232.6
p.E176fs
c.526_527fs
5 papers
NM_012232.6
p.K233fs
c.697_698fs
4 papers
NM_012232.6
p.Q30delFs
c.88delG
4 papers
NM_012232.6
p.Y308C
c.923A>G
3 papers
NM_012232.6
p.K45delFs
c.135delC
3 papers
NM_012232.6
p.V121insFs
c.362dupT
3 papers
NM_012232.6
p.Q157_D158Splc
c.471+1G>T
3 papers
NM_012232.6
p.S175delFs
c.525delC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."